Pierre Robin Syndrome – Symptoms, Causes, Treatment and Complications


What is Pierre Robin Syndrome?

Pierre Robin is a congenital abnormality that is present on the face that when the baby is born, the infant has an abnormal jaw that is smaller than the normal lower jaw, a tongue that falls back into the throat that will cause an infant to have breathing difficulties. It is also called by the medical professionals as Pierre Robin Malformation and Robin Anomalad.

Pierre Robin Syndrome symptoms signs characterstics

Picture 1 – Pierre Robin Syndrome characterstics

Source – adam.com

Signs and Symptoms

  • Cleft soft palate is a congenital deformity where there is no fusion of body’s normal structure before birth
  • High-arched palate is also a congenital deformity where the roof of the mouth is abnormally higher
  • Jaw that is abnormally small that will interfere in feeding the infants
  • Jaw placed abnormally far back in the throat
  • Large tongue that can caused a child to have breathing difficulties
  • Appearance of Natal teeth at birth
  • Ear infections that recurs time to time
  • Small opening in roof of the mouth that will cause a child to choke

Causes

There is still no exact cause that can pinpoint on having Pierre Robin Syndrome. This caused that are mentioned are based on theories and physical symptom that is seen with patients with this kind of disease.

  1. Autosomal Recessive Inheritance that there is a certain gene that can be passed down through the families. There is an abnormal gene that caused a disease to occur or develop.
  2. Physical Symptoms: there is a failure development of the lower jaw before birth. Between the 7th week to 10th week of pregnancy of the mother, normally this time the lower jaw grows in a rapid manner that will allow the tongue to move down between the two halves of the palate. But at certain point of the development, the lower jaw is not growing properly; the tongue can avoid the two palates in closing thus results for the infant to be born with congenital anomaly like cleft palate. The abnormal growth of the lower jaw that is smaller than the normal will cause the tongue to be situated in the back of the mouth that will result in breathing problems that will manifest at birth. This sequence that is visible in this disease is the main reason why this Pierre Robin Syndrome is classified as a “deformation sequence”.

Diagnosis

This Pierre Robin Syndrome is diagnosed by a medical professionals through:

  • Physical Examination where the medical professionals will look any signs and symptoms that can identify if the child has Pierre Robin Syndrome
  • Parents are advised to consult a genetics specialist to rule out problems that can be linked to this syndrome

Treatment

The main goal for treating Pierre Robin Syndrome is focused on breathing and feeding. This goal is to maintain adequate nutrition despite of the present difficulties especially in breathing.



  • Children who have Pierre Robin Syndrome shouldn’t be put on their back in order to prevent the tongue from falling back that will causes breathing difficulties. Medical professionals suggested that the baby should lie on their sides or in prone position to avoid the tongue to fall backwards.
  • Another treatment recommended by the medical professionals is to put the child on having a tube placed through their nose going through the airways to avoid the possibility of airway blockage.
  • In this case, feeding these patients must be done carefully to avoid incidence such as choking and having some liquids to enter in the airway that will cause more problems like breathing difficulty.

Prognosis

Children who are affected by Pierre Robin Syndrome usually reach complete development and size that will make feeding problems and chocking go away. Problems will only arise if there are incidences that airways are not well protected against obstruction that will eventually lead in feeding difficulties. The overall prognosis for this Pierre Robin Syndrome is usually good as long as breathing and feeding difficulties are overcome.

Complications

  • Episodes of Choking
  • There will be Breathing Difficulties
  • Visible when the child is sleeping
  • Low blood oxygen
  • Possible Brain Damage
  • Feeding Difficulties that is a result of breathing problems.
  • Pulmonary Hypertension is a pressure that is high that is present in the arteries of the lung that will result the right side of an individual heart to work harder to force the blood to flow through the vessels that will picks up the oxygen from the lung to deliver it to the whole body.
  • Congestive Heart Failure where the heart is unable to pump out blood that is enough to the body that will lead to many problems if the disease is not managed well.
  • If the signs and symptoms of Pierre Robin Syndrome is not manage well it can lead to death.

Prevention

There is still no known prevention for Pierre Robin Syndrome. Treatments are focused on the breathing, feeding, and choking difficulties. For people who have this kind of disease, it’s better that they follow and listen to the medical professionals recommendation to prevent further complication that might emerge if the problem is not well handled and taken care off.

Pictures

Pierre Robin Syndrome bird facies

Picture 2 – Observe bird facies in Pierre Robin Syndrome

Source – medindia.net

cleft lip in Pierre Robin Syndrome

Picture 3 – Pierre Robin Syndrome cleft lip

Pierre Robin Syndrome in babies

Picture 4 – Pierre Robin Syndrome photo



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2 Responses to “Pierre Robin Syndrome – Symptoms, Causes, Treatment and Complications”

  • Cheryl Ford says:

    My child was born 37 years ago and almost died. When they sent her home from the hospital they told me to put her vitamins in her milk this caused the inside soft cleft pilot to completely close all the airways. She turned black if it hadn’t beem for my mom she would have died. Dr. Richardson did CPR and saved her life. She laid on a stretcher for 3month with a feeding tube and her head hanging with a ace bandage from an IV pole. Little did they know about Pierre Robyn Syndrone. Thank God for my daughter today.

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